The latest update to the national genomic test directory adds a liquid biopsy test for cancers of unknown primary (CUPs) as well as new DNA and RNA gene panels, all endometrial cancers are now eligible to be assessed for POLE variants and a high sensitivity test for JAK2 V617F variants in patients with myeloproliferative neoplasms (MPNs) is now available.
Please always consult the current national genomic test directory when ordering testing.
New tests for cancer of unknown primary
The liquid biopsy (circulating tumour DNA; ctDNA) test will be provided in the East by North Thames Genomic Medicine Service and, as with other ctDNA tests, should be ordered directly. Visit our ctDNA page for more information.
Patients should only be offered this test if they have not already begun treatment.
Full details of the test and referral pathway were included in a recent webinar, which can be reviewed here.
The new panel tests can be ordered from East Genomics as usual and include a range of relevant genetic variants. They are intended to provide a faster result than whole genome sequencing (WGS) that still has potential to inform clinical management.
Eligibility requirements for all new CUP tests
Patients must meet the following criteria:
- ECOG Performance status 0-2
- Diagnosis of carcinoma unknown primary origin (CUP) as per the ESMO / NICE guidelines
- Discussion at a local CUP MDT confirming diagnosis
Additional requirements apply, please consult the latest version of the national genomic test directory before ordering. Find out more about testing for cancer of unknown primary with our CUP community or practice.
Endometrial cancer POLE testing
All endometrial cancers are now eligible for POLE testing, which can be ordered as a reflex by pathology labs. This aligns with BAGP/BGCS recommendations (opens in a new tab).
Testing allows incorporation of molecular classification into multidisciplinary discussions and reporting of hysterectomy specimens to support informed treatment decisions and access to clinical trials.
You can access further advice on this through our gynaecological cancers community of practice.
High sensitivity MPN testing
A test for JAK2 V617F with a limit of detection (LoD) of 0.1%, and including a reportable mutant allele burden, is available to support relevant patients with myeloproliferative neoplasms. This is provided as a sendaway <7 GLH assay by Oxford Genetics Laboratories.
Testing which detects JAK2 V617F to 1% LoD is in use within the region and can be used for monitoring patients. The higher sensitivity test can be requested if the 1% LoD test is negative, and if there is a clinical rationale. For example, for infrequent monitoring in those small numbers of patients on treatment where knowledge of very low JAK2 V617F levels may assist further management.
Testing may also aid recruitment to clinical trials. Find out more in our haemato-oncology community of practice.
Other changes
There is clarification to the eligibility criteria for breast cancer liquid biopsy (ctDNA) to explain when repeat testing may be appropriate, specifically in relation to disease progression.